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Details for FZD4:c.313A>G, p.Met105Val

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
86663485	86952443

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.313A>G

PROTEIN CHANGE

p.Met105Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.398e-05	0.0	0.0001156	0.0	0.0	4.636e-05	8.867e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.463293	Disease causing

DBSNP ID

1 combination linked to FZD4:c.313A>G, p.Met105Val

1 disease linked to FZD4:c.313A>G, p.Met105Val

Familial exudative vitreoretinopathy

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